Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

Distal hereditary motor neuropathies are pure motor disorders of the peripheral nervous system resulting in severe atrophy and wasting of distal limb muscles. In two pedigrees with distal hereditary motor neuropathy type II linked to chromosome 12q24.3, we identified the same mutation (K141N) in sma...

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Veröffentlicht in:	Nature genetics 2004-06, Vol.36 (6), p.597-601
Hauptverfasser:	Vennekens, Krist'l, Broeckhoven, Christine Van, Vandekerckhove, Joël, Mazanec, Radim, Jacobs, An, Gerwen, Veerle Van, Irobi, Joy, Jonghe, Peter De, Impe, Katrien Van, Gettemans, Jan, Vriendt, Els De, Hilton-Jones, David, Talbot, Kevin, Dierick, Ines, Michalik, Andrej, Seeman, Pavel, Verpoorten, Nathalie, Jordanova, Albena, Kremensky, Ivo, Robberecht, Wim, Tournev, Ivailo, Bosch, Ludo Van Den, Timmerman, Vincent
Format:	Artikel
Sprache:	eng
Schlagworte:	Agriculture Amino Acid Sequence Animal Genetics and Genomics Animals Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Cell Line Charcot-Marie-Tooth Disease - genetics Charcot-Marie-Tooth Disease - metabolism Classical genetics, quantitative genetics, hybrids Complications and side effects COS Cells Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Diagnosis Female Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genetic aspects Genetics of eukaryotes. Biological and molecular evolution Heat shock proteins Heat-Shock Proteins - chemistry Heat-Shock Proteins - genetics Heat-Shock Proteins - metabolism Human Human Genetics Humans Identification and classification letter Male Medical sciences Molecular Sequence Data Nervous system diseases Neurology Pedigree Physiological aspects Point Mutation Protein-Serine-Threonine Kinases Recombinant Proteins - chemistry Recombinant Proteins - genetics Recombinant Proteins - metabolism Risk factors Sequence Homology, Amino Acid Transfection
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